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CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with Osteogenesis Imperfecta type VII
Cartilage-associated protein (CRTAP) is an essential cofactor for the proper post-translational chain modification and collagen folding. CRTAP mutations lead in mice (Crtap−/− mice) and humans (OI type VII) to a severe/lethal osteochondrodystrophy; patients have fractures at birth, deformities of th...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2825377/ https://ncbi.nlm.nih.gov/pubmed/19895918 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2009.10.037 |
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